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A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Biodistribution, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

To evaluate the safety and tolerability of IV administration of SBC-103 in subjects with MPS lllB, Sanfilippo B.

Open-Label Extension Study of EFC12492, R727-CL-1112, EFC12732 and LTS11717 Studies to Assess the Long-Term Safety and Efficacy of Alirocumab in Patients with Heterozygous Familial Hypercholesterolemia

Primary objective* To assess the long-term safety of alirocumab when added to currently available lipid-modifying drug therapy in patients with heterozygous familial hypercholesterolemia (heFH) who have completed one of the following studies:…

An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease.

Primary Objective(s): To evaluate long-term safety in patients with mucopolysaccharidosis type IIIA disease (MPS IIIA or Sanfilippo Type A) who received HGT-1410Secondary Objective(s):To evaluate:• The long-term cognitive function as measured by the…

Optimization of the International Paediatric Mitochondrial Disease Scale

Primary Objective: To further optimize the IPMDSSecondary Objective(s): To determine in which age-groups the items within the IPMDS are appropriate To determine whether the IPMDS can assessed reliably by research nurses, students and physician…

A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase deficiency

The primary objective of this study is to evaluate the safety of sebelipase alfa in a more broad population of subjects with LAL Deficiency than have been previously studied.The secondary objectives of this study are (1) to evaluate effects of…

The effect of phenylalanine supplementation on metabolic control in Tyrosinemia Type 1 patients.

The primary objective of this study is to investigate the effect of different levels of oral phenylalanine supplementation on the blood concentration and diurnal variation of phenylalanine and tyrosine in HT1 patients treated with NTBC. This in…

The NeuroFab Study: Two year follow-up of Cognitive and Psychological functioning in patients with Fabry Disease.

Previous studies have suggested an association between FD and cognitive impairment but these were flawed either by lack of power, used variable assessment of cognitive functioning and/or merged results of different phenotypes and sexes. It is of…

Mastication training in adult patients with mitochondrial diseases: a pilot study.

The aim of this pilot study is to assess the effect of low intensity mastication training in patients with a mitochondrial disease on masticatory performance, efficacy, endurance, bite force and the feasibility of this training .

Femoral head pathology in Sanfilippo disease.

To evaluate the prevalence of femoral head pathology in patients with MPS III.

The feasibility, reliability and validity of the MOX-accelerometer in measuring daily physical endurance in children with a mitochondrial disorder

In this study, we aim to test the feasibilty, reliability and validity of the MOX-accelerometer in measuring daily physical activity in children with mitochondrial disease.

Modifying Orphan Disease Evaluation (MODE) Study: A multicenter, open-label study of the
effects of CER-001 on plaque volume in subjects with Homozygous Familial
Hypercholesterolemia

The purpose of the study is to assess the effects of CER-001, given by intravenous infusion with regards to plaque burden of the carotid arteries and the descending thoracic aorta using 3T magnetic resonance imaging (3TMRI).The objective of the…

A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of REGN727/SAR236553 in Patients with Heterozygous Familial Hypercholesterolemia Not Adequately Controlled with Their Lipid-Modifying Therapy

The primary objective of the study is to demonstrate the reduction of LDL-C by REGN727 as add-on therapy to stable, maximally-tolerated dialy statin therapy with or without other LMT in comparison with placebo after 24 weeks of treatment in patients…

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Followed by an Open-Label Continuation Period to Assess the Safety and Efficacy of Two Different Regimens of Mipomersen in Patients with Familial Hypercholesterolemia and Inadequately Controlled Low-Density Lipoprotein Cholesterol.

The primary objective of this study is to determine whether mipomersen significantly reduces atherogenic lipid levels in patients with severe HeFH, defined as LDL-C levels equal to or above 5.18 mmol/L plus the presence of CHD/risk equivalents or…

A Randomized, Double-Blind, Double-Dummy, Active-Controlled Study to Evaluate the Efficacy and Safety of REGN727/SAR236553 in Patients with Primary Hypercholesterolemia Who are Intolerant to Statins

The primary objective of the study is to demonstrate the reduction of low-density lipoprotein (LDL) cholesterol (LDL-C) by REGN727 in comparison with ezetimibe (EZE) 10 mg PO QD after 24 weeks in patients with primary hypercholesterolemia (…

A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to evaluate the Efficacy and Safety of SAR236553 (REGN727) in Patients With Heterozygous Familial Hypercholesterolemia and LDL-C higher or equal to 160mg/dL with Their Lipid-Modifying Therapy

The objective of the study is to assess the efficacy and safety of Alirocumab in patients with heterozygote familial hypercholesterolemia whose LDL-C level is higher than or equal to 160 mg/dL (4.14 mmol/L) on maximally tolerated statin therapy with…

A Multicenter, Open-label Study to Assess the Long-term Safety,
Tolerability, and Efficacy of AMG 145 on LDL-C in Subjects With Severe Familial
Hypercholesterolemia

Primary Objective: To characterize the safety and tolerability of long-term administration ofAMG 145 among subjects with severe familial hypercholesterolemia

A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of SAR236553/REGN727/Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy

The objective of the study is to assess the efficacy, tolerability and safety of SAR236553/Alirocumab when administered during 1.5years in patients with heterozygote familial hypercholesterolemia, who despite of lipid lowering therapy still have…

Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum): biochemical and clinical effects.

To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder

A Placebo-controlled, Double-blind, Randomised, Parallel-group, Long-term Phase III Trial Assessing the Safety and Efficacy of 50 microgram and 100 mircrogram/day of eprotirome in Patients with Heterozygous Familial Hypercholesterolaemia who are on Optimal Standard of Care

The primary objective of this study is to compare the efficacy of eprotirome 50 microgram and eprotirome 100 micorgram versus placebo in terms of the percent change in LDL-C from baseline to Week 12 in HeFH patients with CAD, or who are at high risk…

A First-in-Human (FIH), Randomized, Dose-Escalation, Double-Blind, Placebo-Controlled Study to Assess Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SPC5001 Administered to Healthy Subjects and Subjects with Familial Hypercholesterolemia (FH)

- To evaluate the safety and toleration of SPC5001 in healthy subjects and in subjects with FH.- To assess the lipid lowering effect of SPC5001 in healthy subjects and in subjects with FH.- To assess the pharmacokinetics of SPC5001 in healthy…